Abstract
A renewed interest in tricarboxylic acid cycle enzymopathies has resulted from the report that, in addition to devastating encephalopathies, these can result in various types of tumors in human. We first review the major features of the cycle that may underlie this surprising variety of clinical features. After discussing the rare cases of encephalopathies associated with specific deficiencies of some of the tricarboxylic acid cycle enzyme, we finally examine the mechanism possibly causing tumor/cancer formation in the cases of mutations affecting fumarase or succinate dehydrogenase genes.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Aconitate Hydratase / metabolism
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Citric Acid / metabolism
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Citric Acid Cycle / physiology*
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Fumarate Hydratase / genetics
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Fumarate Hydratase / metabolism
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Genes, Tumor Suppressor
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Humans
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Molecular Structure
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Neoplasms / physiopathology*
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Neurodegenerative Diseases / physiopathology
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Neurosecretory Systems / anatomy & histology
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Neurosecretory Systems / metabolism
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Protein Subunits / genetics
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Protein Subunits / metabolism
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Succinate Dehydrogenase / genetics
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Succinate Dehydrogenase / metabolism
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Zinc / metabolism
Substances
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Protein Subunits
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Citric Acid
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Succinate Dehydrogenase
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Fumarate Hydratase
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Aconitate Hydratase
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Zinc